Androgen insensitivity syndrome (AIS) is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally 46,XY individuals. This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function. Mutations in the AR gene on chromosome Xq12 cause AIS. In this study, we aimed to investigate the mutation spectrum in Turkish patients who had AR mutation analysis with suspected gender development disorder and AR insensitivity syndrome.

The AR gene from the DNA material isolated from the peripheral blood of patients was amplified using appropriate primers and sequenced using the new-generation sequence analysis technique on the Mi-Seq device.

In this study, molecular analysis results of 383 individuals who underwent AR genetic analysis in Ege University Medical Genetics Department between 2011 and 2016 were evaluated retrospectively. There were 44 mutations in these cases. Of the 44 cases detected in the mutation, 16 were affected and the karyotype was 46,XY. 28 of them are the 46,XX carrier mothers, carrier relatives, or siblings of the affected cases.

New mutations were detected in our studies between 2011 and 2016-L57Q, T576I, D691Y, P672R, Q739E, p.R544KfsX8, c.1745_1747delTCT, F726S, L881V, R102G, and L863F. Different mutations can be detected in AR gene in Turkish society. In cases with disorder of sex development, AR should be examined.